Chiari I malformation in a child with PTEN hamartoma tumor syndrome: Association or coincidence?

Eur J Med Genet. 2017 May;60(5):261-264. doi: 10.1016/j.ejmg.2017.03.002. Epub 2017 Mar 7.


PTEN hamartoma tumor syndrome (PHTS) refers to a group of clinical conditions caused by germline mutations in the PTEN tumor suppressor gene. Increasing evidence has documented that PHTS may be associated with a broader spectrum of structural brain abnormalities, including dysplastic gangliocytoma of the cerebellum, brain tumors, vascular malformations, white matter abnormalities, dilated perivascular spaces and cortical dysplasia. We report a PTEN-mutated child showing macrocephaly, mild intellectual disability and epilepsy symptomatic of right occipital polymicrogyria, who also developed Chiari I Malformation (CIM) that repeatedly required surgical correction. We suppose that the association between PHTS and CIM could be not coincidental, thus extending the spectrum of neurological manifestations of PHTS and highlighting the role of brain MRI in the management of PHTS patients. We suggest that genes within the RAS-MAPK and PI3-AKT pathways might have a significant role in the pathogenesis of CIM in such patients.

Keywords: Brain; Chiari I malformation; Magnetic resonance imaging; PTEN gene; PTEN hamartoma tumor syndrome.

Publication types

  • Case Reports

MeSH terms

  • Arnold-Chiari Malformation / complications*
  • Child
  • Hamartoma Syndrome, Multiple / complications
  • Hamartoma Syndrome, Multiple / genetics*
  • Humans
  • Male
  • PTEN Phosphohydrolase / genetics*


  • PTEN Phosphohydrolase
  • PTEN protein, human